ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA340541
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.6238
Score
-0.0054
Score
-3.398
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006627
ClinVar Variation:
6249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Gly296Ser
CA340540
NM_004700.4:c.886G>A